Amy E. Pepper

Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.

Jennifer M. Puck, Amy E. Pepper, Paula S. Henthorn et al. · PubMed · 1997 · 160 citations

Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.

Jennifer M. Puck, Amy E. Pepper, P M Bédard et al. · Journal of Clinical Investigation · 1995 · 47 citations · Full text

Immunodeficiencies, Genetics, Immunology +16

Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization

Jennifer M. Puck, Lindsay Middelton, Amy E. Pepper · Human Genetics · 1997 · 44 citations

Primary Immunodeficiency, Genetic Disorder, Medicine +10

Maternal Mosaicism for a Novel Interleukin-2 Receptor γ-Chain Mutation Causing X-Linked Severe CombinedImmunodeficiency in a Navajo Kindred

Aengus O’Marcaigh, Jennifer M. Puck, Amy E. Pepper et al. · Journal of Clinical Immunology · 1997 · 29 citations

Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency

Carla Tassara, Amy E. Pepper, Jennifer M. Puck · Human Molecular Genetics · 1995 · 24 citations

Immunodeficiencies, Genetics, Immunology +25